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Summary: Diagnosis of essential thrombocythaemia (ET) is challenging in patients lacking JAK2/CALR/MPL mutations. In a retrospective evaluation of 320 patients with 'triple‐negative thrombocytosis', we assessed utility of bone marrow histology (90.9% of patients) and myeloid gene panel (MGP, 55.6%). Supportive histology ('myeloproliferative neoplasm‐definite/probable', 36.8%) was associated with higher platelet counts and varied between centres. 14.6% MGP revealed significant variants: 3.4% JAK2/CALR/MPL and 11.2% other myeloid genes. Final clinical diagnosis was strongly predicted by histology, not MGP. 23.7% received cytoreduction (17.6% under 60 years). Real‐world 'triple‐negative' ET diagnosis currently depends heavily on histology; we advocate caution in MGP‐negative cases and that specific guidelines are needed. [ABSTRACT FROM AUTHOR]

A 5-year retrospective study published in the British Journal of Haematology examined changes in practice within a haematological malignancy diagnostic service. The study found that there has been an increase in the use of ancillary immunophenotypic, molecular, and cytogenetic assays to supplement morphological assessment in order to improve diagnostic accuracy and treatment options. The study also observed an increase in the number of testing modalities per specimen, particularly in genomic testing, which has led to more confident diagnoses of chronic myeloid disease. The findings highlight the need for increased scientific capacity and training within laboratories to support the analysis of these complex assays. [Extracted from the article]